OBJECTIVETo investigate the distribution and frequency of UGTIA6 A541G genetic polymorphism in Han epileptic children from Henan and to evaluate the effect of UGTIA6 A541G genetic polymorphism on serum concentrations of valproic acid.

METHODSThe method of gas chromatography was used to assay serum concentrations of valproic acid. UGTIA6 A541G genetic polymorphism was screened by PCR-RFLP. Direct sequencing was used to confirm the expected sequences of each genotype.

RESULTSThe genotypic frequencies of UGTIA6 A541G were as follows: AA in 76 cases, AG in 65 cases and GG in 6 cases. The mean values of serum concentrations of valproic acid in patients with A541G AA, AG and GG were 3.91+/-1.57, 3.59+/-1.39 and 3.73+/-1.28 microg/mL, respectively (dose-adjusted trough concentration on a mg/kg basis). There were no significant differences in serum concentrations of valproic acid among the three groups.

CONCLUSIONSUGT1A6 A541G gene polymorphism does not influence serum concentrations of valproic acid in Han epileptic children. Individual differences in serum concentrations of valproic acid may be attributed to many factors.

Adolescent ; Anticonvulsants ; metabolism ; Child ; Child, Preschool ; China ; ethnology ; Epilepsy ; drug therapy ; genetics ; metabolism ; Glucuronosyltransferase ; genetics ; Humans ; Polymorphism, Genetic ; Valproic Acid ; metabolism

There have been many studies on the nutrition and the growth status of children from rural and remote western regions of China,whereas researches on children from urban low-income families are scarce.This study aimed to investigate the growth and nutritional status of children under five years of age from urban low-income families in China.There were 169 children aged 25-60 months recruited from Xiangtan and Jilin,two cities with a population of 2.81 million and 4.26 million respectively,in China in this cluster cross-sectional study.Data were collected on demographic and socioeconomic characteristics,the feeding practices and the incidence of anemia and diarrhea.The results showed that the prevalence of low birth weight and macrosomia was 7.l％ and 9.5％ for the two cities,respectively,which was higher than that for other cities in China (1.5％ and 5.9％).Of all the sampled children,14.6％ and 8.2％ suffered anemia and diarrhea,respectively.Multivariate analysis showed that legumes or nuts fed in a 24-h recall increased the risk of anemia (OR=4.9).Children whose caregivers began to introduce complementary foods relatively late would have high diarrhea prevalence (OR=1.4).In conclusion,the prevalence of anemia and diarrhea in under-five children from urban low-income families in China is relatively high.The growth and nutritional status of these children is greatly affected by feeding practices.A series of measures should be taken by relevant government departments to improve the health of these children.

Adult ; Antiviral Agents ; adverse effects ; therapeutic use ; Drug Therapy, Combination ; Female ; Hearing Disorders ; chemically induced ; Hepatitis C, Chronic ; drug therapy ; Humans ; Interferon-alpha ; adverse effects ; therapeutic use ; Middle Aged ; Recombinant Proteins ; adverse effects ; therapeutic use ; Ribavirin ; adverse effects ; therapeutic use

OBJECTIVETo investigate the intervention effect of thalidomide on paraquat-induced acute lung injury in mice and its mechanism.

METHODSMale ICR mice were randomly allocated to negative control group (n = 30), thalidomide control group (n = 30), paraquat poisoning group (n = 30), 50 mg/kg thalidomide treatment group (n = 30), 100 mg/kg thalidomide treatment group (n = 30), and 150 mg/kg thalidomide treatment group (n = 30). The negative control group was intraperitoneally injected with the same volume of saline; the thalidomide control group was intraperitoneally injected with thalidomide (150 mg/kg); the paraquat poisoning group was intraperitoneally injected with diluted paraquat solution (22 mg/kg); each thalidomide treatment group was intraperitoneally injected with the same volume of paraquat solution (22 mg/kg) and was injected with thalidomide (50, 100, or 150 mg/kg) 1 h later. All mice were anesthetized and sacrificed at 1, 3, or 7 d after paraquat poisoning, and their lung tissue was collected. The levels of tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and IL-6 in lung tissue were measured by double-antibody sandwich ELISA; the mRNA expression of nuclear factor-kappa B (NF-κB) was measured by RT-PCR; the protein expression of nuclear NF-kgr;B p65 was measured by Western blot. The pathological changes of lung tissue were observed under light microscope; the wet/dry ratio of the lung was calculated.

RESULTSCompared with the negative control group, the paraquat poisoning group had significantly increased levels of TNF-α, IL-1β, IL-6, NF-κB mRNA, and nuclear NF-κB p65 and wet/dry ratio of the lung (P < 0.05). Compared with the paraquat poisoning group, the thalidomide treatment groups had significantly decreased levels of TNF-α, IL-1β, IL-6, NF-κB mRNA, and nuclear NF-κB p65 and wet/dry ratios of the lung (P < 0.05), and the 150 mg/kg thalidomide treatment group showed the most significant decrease in the levels of TNF-α, IL-1β, IL-6, NF-κB mRNA, and nuclear NF-κB p65. The observation of pathological changes showed that the paraquat poisoning group had the most marked lung tissue damage at 3 d after poisoning, and the lung tissue damage was lessened in the thalidomide treatment groups.

CONCLUSIONThalidomide can reduce paraquat-induced acute lung injury and lung edema. The mechanism may include inhibition of NF-κB activation and expression and downregulation of TNF-α, IL-1β, and IL-6.

Acute Lung Injury ; chemically induced ; drug therapy ; Animals ; Cytokines ; metabolism ; Disease Models, Animal ; Male ; Mice ; Mice, Inbred ICR ; NF-kappa B p50 Subunit ; metabolism ; Paraquat ; poisoning ; Thalidomide ; pharmacology ; Transcription Factor RelA ; metabolism

Objective To explore the feasibility and clinical eflfect of nerve stimulation in obturator nerve block during transurethral resection of the bladder tumor(TURBT). Methods Thirty superfcial bladder tumor patients were randomly divided into observation group and control group, with 15 patients in each group.The patients of observation group were punctured and injected under the guidance of nerve stimulator localization,and the ones in control group underwent conventional puncture and injection of drug.Comparison was done between the 2 groups in curative effect,used drug dose and post-operative life quality. Results One patient in observation group and 7 patients in control group had symptom of adductor spasm, and the efficient rates of the 2 groups were 14/15 (93%) and 8/15 (53%), respectively, and the difference has statistical significrdnce (P＜0.05); the drug used dose and anxious score and depression score of control group were higher than those of obsenration group(P＜0.05). Conclusions The nerve stimulator localization for obturator nerve block during TURBT can improve blocking success rate and quality,and it can be extensiVely used in clinic.

OBJECTIVETo investigate the clinical features and prognosis of malignancy-associated hemophagocytic lymphohistiocytosis (MAHS) in children.

METHODSA retrospective analysis was performed for the primary diseases, clinical features, and prognosis of 24 children with MAHS.

RESULTSAmong the 24 children, 11 (46%) had MAHS induced by tumor and 13 (54%) had chemotherapy-associated MAHS. As for primary diseases, 17 children had acute leukemia, 6 had lymphoma, and 1 had neuroblastoma. The most common clinical manifestations were pyrexia, respiratory symptoms, and hepatosplenomegaly. The most common laboratory abnormalities were hemocytopenia, elevated serum ferritin, and elevated lactate dehydrogenase. Of the 24 children, 22 were treated according to the HLH-2004 protocol and 2 gave up treatment; 18 children died, 1 was lost to follow-up, and 5 survived. The survival time ranged from 3 days to 2 years and 4 months (median 28 days).

CONCLUSIONSChildren with MAHS have various clinical features and extremely poor treatment outcomes.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; mortality ; therapy ; Male ; Neoplasms ; complications ; Prognosis ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population.

METHODSThe sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.8) and genotyped with TaqMan-PCR method in 1910 general populations (682 MetS and 1228 non-MetS controls). The subjects were selected from the cross-sectional study of obesity, hypertension, diabetes, dyslipidemia from January to February 2007 among Uygur people, a relatively isolated population with a relatively homogeneous environment, in Hextian area in Xinjiang Uygur Autonomous Region.

RESULTS(1) Fourteen novel and six known single nucleotide polymorphisms (SNPs) or mutations, including 2 missense mutations, were identified at the functional region of STEAP4 gene in 96 Uygur patients with MetS. The minor allele frequencies of the SNPs of STEAP4 gene in Uygur population were different from that in European and Chinese Han in Beijing area. (2) The SNP 364G/A (rs34741656, Ala122Thr) was significantly associated with MetS [dominant model P = 0.034, OR = 0.757(95%CI: 0.584-0.982) adjusted for age and gender], and was associated with fasting blood glucose (FBG) (P = 0.049) and 2-hour postprandial glucose (2HPG) (P = 0.027) levels in controls. In this SNP, the AA carriers had lower blood glucose levels compared with subjects carrying GG and GT genotypes. (3) The common haplotype H4 (rs8122/rs1981529/ rs34741656, G-A-A), may be associated with MetS (permutation P = 0.089).

CONCLUSIONSTEAP 4 genetic polymorphisms may be associated with MetS risk in Chinese Uygur population.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Ethnic Groups ; genetics ; Female ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Male ; Membrane Proteins ; genetics ; Metabolic Syndrome ; etiology ; genetics ; Middle Aged ; Oxidoreductases ; genetics ; Polymorphism, Single Nucleotide

OBJECTIVETo investigate the association of urinary albumin excretion rate (UAER) and hyperuricemia with macrovascular atherosclerosis in type 2 diabetic patients.

METHODSNinety-seven type 2 diabetic patients were divided into two groups according to the UAER, namely group A with UAER between 20 and 200 microg/min (n=63) and group B with UAER > or = 200 microg/min (n=34); the patients were also classified into hyperuricemia group (group C, n=59) and normal blood uric acid (BUA) group (group D, n=38). The disease course, BUA, fasting blood glucose (FBG), triglyceride (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoproteins (HDL), UAER and arteria carotis intima-media thickness (IMT) were determined in these patients. The relationship of UAER and hyperuricemia with carotid arterial IMT was analyzed statistically.

RESULTSThe levels of TG, TC, LDL and HDL showed no significant differences between the 4 groups (P>0.05). The disease course, BUA, UAER, and FBG levels and IMT in groups A and C were significantly higher than those in groups C and D (P<0.05), but no such differences were found between groups A and C or between groups B and D (P>0.05). Arotid arterial IMT was independently correlated to the disease course, BUA and UAER (r=0.201, 0.1999, 0.211, respectively, P<0.05), and a significant positive correlation was noted between BUA and UAER (r=0.221, P<0.05).

CONCLUSIONMacrovascular atherosclerosis in type 2 diabetic patients is significantly correlated to the disease course, BUA and UAER levels, which can be used to evaluate and predict macrovascular atherosclerosis in type 2 diabetic patients.

Adult ; Aged ; Albuminuria ; complications ; Atherosclerosis ; complications ; pathology ; Carotid Arteries ; pathology ; Diabetes Mellitus, Type 2 ; complications ; pathology ; Female ; Humans ; Hyperuricemia ; complications ; Male ; Middle Aged ; Retrospective Studies

OBJECTIVETo investigate the association between genetic variations of the six transmembrane protein of prostate 2 (STAMP2) and obesity in Xinjiang Uygur population.

METHODSA total of 2332 Uygur subjects (1455 obesity and 877 non-obesity control subjects) were included in this case-control study based on epidemiological survey. Genetic variations of STAMP2 gene functional region were sequenced. The representative variations selected were genotyped by TaqMan-PCR method.

RESULTSTwenty genetic variations, including 14 novel variations, were identified. The genotype distributions of the control group and obesity group were in the Hardy-Weinberg equilibrium (both P > 0.05). The frequency of AA of rs1981529 (67.6% vs. 62.8%, P < 0.05) and the frequency of G-A-G haplotype (62.4% vs. 58.9%, P < 0.05) in obesity group were significantly higher than that in controls while the frequency of A-G-G haplotype was significantly lower in the obesity patients than that in the control group (17% vs. 20%, P < 0.05). After adjusting age, sex, smoking and drinking, logistic regression analysis showed that the AA genotype of rs1981529 (OR: 1.276, 95%CI: 1.049 - 1.552; P < 0.05) and the G-A-G haplotype (OR: 1.356, 95%CI: 1.007 - 1.862, P < 0.05) were the independent risk factors for obesity in this cohort.

CONCLUSIONThe AA genotype of rs1981529 and G-A-G haplotype are associated with obesity in Uygur population of Xinjiang.

Adult ; Aged ; Case-Control Studies ; China ; epidemiology ; Cross-Sectional Studies ; Ethnic Groups ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Obesity ; epidemiology ; genetics ; Oxidoreductases ; genetics ; Polymorphism, Single Nucleotide ; Risk Factors

OBJECTIVETo investigate the association between the genetic variations of six transmembrane protein of prostate 2 (STAMP2) with type 2 diabetes mellitus (T2DM) in Xinjiang Uygur population.

METHODSA case-control study was conducted based on epidemiological investigation. A total of 1838 Uygur subjects were selected and divided into two groups: T2DM group (n=274) and control group (n=1564). All exons, flanking introns, and the promoter regions of STAMP2 gene were sequenced in 48 Uygur Xinjiang population with diabetes. Representative variations selected were genotyped by TaqMan-PCR method in all individuals.

RESULTSTen novel and 6 known variations in the STAMP2 gene were identified. The distribution of genotype rs8122 significantly differed between T2DM group and control group (P=0.05), whereas the distribution of genotypes rs1981529 and rs34741656 showed no such difference. The fasting insulin in the total cohort and homeostasis model of assessment index in females showed significant difference between these two groups (P<0.05), while the adjusted P value showed no statistical significance (P>0.05). In the male population, the different genotypes of rs8122 variation of STAMP2 gene were not significantly different (P>0.05).

CONCLUSIONThree polymorphisms (rs8122, rs1981529 and rs34741656) of STAMP2 gene may be not related with T2DM in Xinjiang Uygur population.

Adult ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Diabetes Mellitus ; ethnology ; genetics ; Female ; Genotype ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Oxidoreductases ; genetics ; Polymorphism, Genetic ; Promoter Regions, Genetic